Hemophilia Hemochromatosis Diagnosis

Hemochromatosis is a genetic or acquired disorder that causes iron overload in the body. Those who carry defective genes may not exhibit any symptoms until later in life. Many people are unfamiliar with the disease, but it is among the most common genetically inherited conditions.

Symptoms of Iron Overload

Iron is an important mineral for the human body, but only in certain amounts. Healthy individuals cast off excess iron in their systems to keep percentages at the right levels. Those with defective “HFE” genes store the extra mineral in various parts of the body. In time, the buildup begins to take its toll on organs and tissue, such as the liver, heart and pancreas. Joints are also at risk for damage from long-term iron storage.

Common symptoms include:

  • arthritis
  • fatigue
  • hair loss
  • impotence
  • joint pain
  • reduced thyroid function
  • stomach pain.

As the disease progresses, more serious conditions may develop, including:

  • cirrhosis of the liver
  • diabetes
  • heart failure
  • irregular heartbeat.

Impact on the liver occurs in other serious ways, including organ failure or cancer. In addition, the skin can develop a gray or “tanned” tint.

Risk Factors for Hemochromatosis

Because this is an iron-related disease, effects commonly occur over time. Many people who carry the mutant genes don’t experience symptoms until later in life. Men may begin to exhibit signs of the disease by their mid-50s. Women with the mutation generally see the condition develop with the onset of menopause, since their previous monthly loss of blood cast off excess iron stores. Younger females may develop hemochromatosis at any time they are not having regular menstrual cycles.

Secondary hemochromatosis usually occurs when another disease, such as hepatitis, is already present. Blood transfusions and kidney dialysis can also lead to acquired hemochromatosis.

Several factors play a role in determining who is at increased risk:

  • Ethnicity: People of Northern European heritage have the highest risk of inheriting the gene mutations that lead to hemochromatosis.
  • Family link: One or more family members with a hemochromatosis diagnosis means related individuals are at greater risk.
  • Gender: Statistics often reflect a wider gap between males and females who contract the condition. This is partially because males exhibit signs of the disease at an earlier age.

Hemochromatosis Diagnosis

Specialists begin searching for a hereditary diagnosis by looking at mutations in the HFE gene. C282Y and H63D are the two most common defects that point to hemochromatosis.

If an individual carries only one C282Y mutation, he or she may be a carrier. However, two C282Y genes provide a definitive answer. This is not a guarantee that symptoms will arise. Some questions exist about the importance of H63D and its relationship to iron overload.

Once symptoms appear, the disease will only become worse. Seek treatment as soon as possible once a diagnosis is made. If caught early before organ damage progresses, individuals can live full and active lives.

Specialty Testing for Hemochromatosis

Several blood tests, including those that look at ferritin levels, are critical in evaluating and determining treatment. In many cases, they’re run as a series based on a calculation of numbers and percentages.

  • Serum ferritin is a method of measuring the level of blood in protein, which is a natural storage point for iron.
  • Serum iron testing is a measurement of levels in the blood.
  • Total iron-binding capacity (TIBC) is a measurement of the blood’s ability to carry iron.
  • Transferrin saturation percentages are calculations of the above blood tests to determine high or low levels of iron.

Liver biopsies were once the main diagnostic resource and are still used today. The specialist numbs an area under the rib cage and uses a needle to collect tissue. He or she then examines the tissue under a microscope and evaluates the levels of iron. A biopsy can reveal if other damage, such as cirrhosis, exists. Alternatives for early-stage testing include an MRI (magnetic resonance imaging) and ultrasound.

Family History and Iron Deficiency

With newer technologies in genetics testing, individuals may choose to discover any hereditary ties to this disease. The test for HFE mutations is highly accurate, but it still cannot tell who will develop symptoms. Couples who are planning a family may elect to undergo testing to determine the risk of passing the genes on to their children.

Expert opinions are divided as to who should undergo DNA testing. Some believe that everyone should have the opportunity for evaluation. Others suggest that only individuals of a certain age and with a family history of the disease would benefit.

Remember that even those who experience higher iron levels may never exhibit symptoms of hemochromatosis. For others, it can become a serious issue if left undiagnosed and untreated. Professional evaluation, with appropriate treatment, can make a major difference in quality of life.


Iron Disorders Institute (2006). Hemochromatosis. Retrieved December 13, 2008, from the Iron Disorders Institute Web site: http://www.irondisorders.org/Disorders/Hemochromatosis.asp.

KidsHealth (2007). Hereditary hemochromatosis. Retrieved December 13, 2008, from the KidsHealth Web site: http://kidshealth.org/parent/medical/heart/hh.html.

Mayo Foundation for Medical Education and Research (1998-2008). Hemochromatosis. Retrieved December 13, 2008, from the Mayo Clinic Web site: http://www.mayoclinic.com/health/hemochromatosis/DS00455/DSECTION=complications.

National Heart, Lung and Blood Institute (n.d.). How is hemochromatosis diagnosed? Retrieved December 13, 2008, from the NHLBI Web site: http://www.nhlbi.nih.gov/health/dci/Diseases/hemo/hemo_diagnosis.html.